Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/221599
Title: Trans-ethnic GWAS meta-analysis of idiopathic spermatogenic failure highlights the immune-mediated nature of Sertoli cell-only syndrome
Author: González Muñoz, Sara
Long, Yichen
Guzmán Jiménez, Andrea
Cerván Martín, Miriam
Higueras Serrano, Inmaculada
Castilla, José A.
Clavero, Ana
Garrido, Nicolás
Luján, Saturnino
Yang, Xiaoyu
Guo, Xuejiang
Liu, Jiayin
Bassas, Lluís
Seixas, Susana
Gonçalves, João
Lopes, Alexandra M.
Larriba, Sara
Bossini Castillo, Lara
Palomino Morales, Rogelio J.
Wang, Cheng
Hu, Zhibin
Carmona, F. David
Keywords: Malalties de l'aparell genital masculí
Espermatogènesi
Esterilitat masculina
Male genital diseases
Spermatogenesis
Male sterility
Issue Date: 5-Apr-2025
Publisher: Springer Science and Business Media LLC
Abstract: Non-obstructive azoospermia, a severe form of male infertility caused by spermatogenic failure (SPGF), has a largely unknown genetic basis across ancestries. To our knowledge, this is the first trans-ethnic meta-analysis of genome-wide association studies on SPGF, involving 2255 men with idiopathic SPGF and 3608 controls from European and Asian populations. Using logistic regression and inverse variance methods, we identify two significant genetic associations with Sertoli cell-only (SCO) syndrome, the most extreme SPGF phenotype. The G allele of rs34915133, in the major histocompatibility complex class II region, significantly increases SCO risk (P = 5.25E-10, OR = 1.57), supporting a potential immune-related cause. Additionally, the rs10842262 variant in the SOX5 gene region is also a genetic marker of SCO (P = 5.29E-09, OR = 0.72), highlighting the key role of this gene in the male reproductive function. Our findings reveal shared genetic factors in male infertility across ancestries and provide insights into the molecular mechanisms underlying SCO.
Note: Reproducció del document publicat a: https://doi.org/10.1038/s42003-025-08001-2
It is part of: Communications Biology, 2025, vol. 8
URI: https://hdl.handle.net/2445/221599
Related resource: https://doi.org/10.1038/s42003-025-08001-2
ISSN: 2399-3642
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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